Canonical Allele Identifier: CA2323507854
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665741A= , CM000681.2:g.12665741A= GRCh38
NC_000019.9:g.12776555A= , CM000681.1:g.12776555A= GRCh37
NC_000019.8:g.12637555A= NCBI36
NG_008318.1:g.6037T=
NG_015814.1:g.3938A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.224T= MANE Select ENSP00000395473.2:p.Val75=
ENST00000221363.8:c.224T= ENSP00000221363.4:p.Val75=
ENST00000456935.6:c.224T= ENSP00000395473.2:p.Val75=
ENST00000466794.5:n.206T=
ENST00000486847.2:c.160-216T= ENSP00000470174.1:n.160-216T=
ENST00000596512.5:n.201-216T=
ENST00000597961.1:c.215T= ENSP00000472710.1:p.Val72=
ENST00000598876.1:c.251T= ENSP00000470533.1:p.Val84=
ENST00000600281.1:n.265T=
NM_000528.3:c.224T= NP_000519.2:p.Val75=
NM_001173498.1:c.224T= NP_001166969.1:p.Val75=
XM_005259913.1:c.224T= XP_005259970.1:p.Val75=
XM_005259913.2:c.224T= XP_005259970.1:p.Val75=
XM_024451518.1:c.-795T= XP_024307286.1:n.-795T=
NM_000528.4:c.224T= MANE Select NP_000519.2:p.Val75=
NM_001173498.2:c.224T= NP_001166969.1:p.Val75=